title: Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.
abstract: A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral visual field constriction was noted on dynamic Goldmann perimetry, and a markedly impaired response was observed on both photopic and scotopic electroretinograms. Cystoid macular edema was identified in both eyes on optical coherence tomography. Plasma levels of ornithine were elevated. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina. The clinical diagnosis was confirmed by mutation analysis of the ornithine-δ-aminotransferase (OAT) gene. Patients were treated with a pyridoxine supplement (300 mg/day) and an arginine-restricted diet to lower plasma levels of ornithine, which were successfully reduced without progression of chorioretinal atrophy for 15 months. Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation.
authors.affiliation: Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sang Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Dong Hui
authors.initials: DH
authors.lastname: Lim
authors.forename: Jae Hui
authors.initials: JH
authors.lastname: Kim
authors.forename: Se Woong
authors.initials: SW
authors.lastname: Kang
mesh_terms: D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D015799:Gyrate Atrophy / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D009154:Mutation; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics* / Q000378:metabolism; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D004247:DNA; D009953:Ornithine-Oxo-Acid Transaminase
keywords: Gene mutation; Gyrate atrophy; Hyperornithinemia; Ornithine-δ-aminotransferase deficiency; Pyridoxine